Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 1.000 14 2008 2018
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.030 0.667 3 2009 2018
dbSNP: rs11209032
rs11209032
10 0.752 0.400 1 67274409 upstream gene variant G/A snv 0.30 0.030 1.000 3 2012 2017
dbSNP: rs2201841
rs2201841
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.030 1.000 3 2009 2018
dbSNP: rs4129267
rs4129267
13 0.807 0.200 1 154453788 intron variant C/G;T snv 0.710 1.000 3 2013 2018
dbSNP: rs7517847
rs7517847
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.720 1.000 3 2012 2018
dbSNP: rs1004819
rs1004819
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.020 < 0.001 2 2013 2014
dbSNP: rs11465804
rs11465804
10 0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02 0.020 1.000 2 2012 2018
dbSNP: rs1217414
rs1217414
3 0.882 0.120 1 113870045 non coding transcript exon variant G/A snv 0.36 0.020 1.000 2 2014 2017
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.710 1.000 2 2016 2017
dbSNP: rs3091244
rs3091244
CRP
17 0.724 0.280 1 159714875 upstream gene variant G/A;T snv 0.020 1.000 2 2016 2019
dbSNP: rs6600247
rs6600247
5 0.827 0.120 1 24978623 intergenic variant T/C snv 0.55 0.700 1.000 2 2013 2016
dbSNP: rs10489630
rs10489630
2 0.925 0.040 1 67196939 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10494829
rs10494829
1 1.000 0.040 1 200968901 downstream gene variant G/A snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs1050501
rs1050501
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.010 < 0.001 1 2012 2012
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2018 2018
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2016 2016
dbSNP: rs10800314
rs10800314
5 0.827 0.120 1 161502999 upstream gene variant C/A snv 0.65 0.700 1.000 1 2016 2016
dbSNP: rs10889676
rs10889676
5 0.827 0.120 1 67256884 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10917661
rs10917661
3 0.882 0.160 1 161671427 stop gained C/T snv 2.8E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs11209008
rs11209008
3 0.882 0.080 1 67157615 intron variant G/A;T snv 5.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs11249215
rs11249215
1 1.000 0.040 1 24970693 non coding transcript exon variant G/A snv 0.44 0.800 1.000 1 2011 2011
dbSNP: rs114202211
rs114202211
5 0.827 0.120 1 113943285 intron variant T/C snv 8.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs11578380
rs11578380
1 1.000 0.040 1 67295682 intergenic variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs11580078
rs11580078
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015